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Öğe Acute Ataxia in Childhood Clinical Presentation, Etiology, and Prognosis of Single-Center Experience(Lippincott Williams & Wilkins, 2021) Kirik, Serkan; Aslan, Mahmut; Ozgor, Bilge; Gungor, Serdal; Aslan, NeslihanBackground Acute ataxia is a common reason for presentation to the pediatric emergency department and the pediatric neurology clinic in childhood. Its incidence is between 1/100,000 and 1/500,000. Its most common reason is infections. Objective The aim of this study was to examine the clinical presentation, etiological factors, and prognosis of patients presenting to our regional tertiary pediatric neurology clinic with a diagnosis of acute ataxia. Methods An evaluation was made of patients younger than 18 years diagnosed with acute ataxia in our tertiary pediatric neurology clinic between 2009 and 2016. Results Thirty-nine children were included in the analysis. Sex, age, diagnoses, treatment options, and clinical and radiological findings were evaluated. Acute postinfectious cerebellar ataxia was the most common diagnosis (21/39 [51.2%]). No agent could be identified in viral serological examination in 34 patients (87.2%). Rotavirus was identified in 2 (10.5%) of the acute postinfectious cerebellar ataxia cases, and varicella-zoster virus, herpes simplex virus, and hepatitis A positivities were each identified in 1 case. In 20 (51.2%) of 39 patients, varying treatments were applied according to the primary etiology. Conclusions Acute ataxia is a significant neurological problem in childhood. In this study, Rotavirus was the most common infectious agent. It may be related to vaccination. This study can be considered of value as the most comprehensive study conducted to date on this subject in the eastern region of Turkey.Öğe Akut immün trombositopenik purpura tanısı alan hastaların retrospektif değerlendirilmesi ve yüksek doz metilprednizolon ile intravenöz immunglobulin tedavilerinin karşılaştırılması(2019) Aslan, Mahmut; Özgen, Ünsal; Aslan, NeslihanÖz: Amaç: Çocukluk çağında en sık görülen edinsel trombositopeni nedenlerinden birisi immün trombositopenik purpuradır. İmmün trombositopenik purpura (İTP), otoantikorla kaplı trombositlerin retiküloendotelyal sistemde doku makrofajları aracılığıyla yıkılarak dolaşımdaki trombosit sayısının azalması ve bu otoantikorların trombosit üretimini inhibe etmesi ile seyreden otoimmün bir hastalıktır. Bu çalışmada akut immün trombositopenik purpura tanısı almış hastaların dosyaları retrospektif olarak incelendi. Hastaların başvuru sırasındaki klinik özellikleri ve tedavi seçiminin etkinlikleri belirlenmeye çalışıldı. Gereç ve Yöntemler: Hastanemiz Çocuk Hematoloji Kliniğinde, Ocak 2010 - Ağustos 2014 tarihleri arasında akut immün trombositopenik purpura tanısı alan hastalar çalışmaya dâhil edildi. Hasta dosyaları retrospektif olarak incelendi. Yüksek doz metilprednizolon ve intravenöz immunglobulin (İVİG) tedavileri alan hastaların tedaviye yanıtları karşılaştırıldı. Bulgular: Çalışmamıza alınan hastaların 91’i (%56,9) erkek idi. Hastaların %48,13’ünde başvurudan 1-4 hafta öncesinde geçirilmiş enfeksiyon öyküsü mevcuttu. Hastaların ortalama trombosit sayısı 12081±11912 /mm3 idi. Yüz beş (%65,6) hastaya yüksek doz metilprednizolon, 55 (%34,4) hastaya İVİG tedavileri verilmişti ve tedavinin 10. gününde, tedaviye yanıt açısından istatistiksel olarak yüksek doz metilprednizolon ile intravenöz immunglobulin arasında anlamlı fark saptanmadı (p=0,732). Altı ayın sonunda yüksek doz metilprednizolon verilen hastalar ile intravenöz immunglobulin verilen hastalar arasında kronikleşme açısından anlamlı ilişki saptanmadı (p=0,468). Başvuru anında bakılan kanama zamanı 7 dakikanın üzerinde olan %15 hastanın kronikleşme gelişme oranı daha yüksek saptandı (p=0,031). Sonuç: İmmün trombositopenik purpura çocukluk çağında sık görülen bir hastalık olup hastaların %20-30’u kronikleşmektedir. Yüksek doz metilprednizolon ile intravenöz immunglobulin tedavilerinin kronikleşme üzerine etkisi açısından aralarında fark saptanmamıştır.Öğe Ataksi-telenjiektazi: iki kardeş olgunun sunumu(İnönü Üniversitesi Tıp Fakültesi Dergisi, 2014) Çatal, Ferhat; Aslan, Mahmut; Topal, Erdem; Ermiştekin, Halime; Sinanoğlu, M. SelçukAtaksi-telenjiektazi ilerleyici serebellar ataksi, kutanöz ve konjunktival telenjiektaziler, oküler apraksi, immün yetmezlik ve artmış malignensi riski ile karekterize nadir görülen otozomal resesif geçiş gösteren nörodejeneratif bir hastalıktır. Ataksi-telenjiektaziden sorumlu gen 11q22-23 de lokalizedir. Humoral ve hücresel immünitede değişik derecelerde bozukluklar bildirilmiştir. Hem T hücreli, hemde B hücreli lösemi ve lenfoma sıklığı genel popülasyona göre artmıştır. T hücreli tümörler hastalığın seyri sırasında herhangi bir yaşta görülürken, B hücreli tümörler daha çok ileri yaşta görülür. Bu sunumda daha önce ataksi-telenjiektazi tanısı konulup lösemi nedeniyle ölen kardeş öyküsü olan ataksi-telenjiektazili iki kardeş olgusu tartışıldı. Bu olgular nedeniyle ataksi telenjiektazinin klinik bulguları, etkilenen sistemler ve tedavisi üzerinde duruldu.Öğe Ataxia-Telangiectasia: Case Report of Two Siblings(İnönü Üniversitesi Tıp Fakültesi Dergisi, 2014) Çatal, Ferhat; Aslan, Mahmut; Topal, Erdem; Ermiştekin, Halime; Sinanoğlu, M. Selçuk; Aslan, Neslihan; Yıldırım, NurdanCharacterized by progressive cerebellar ataxia, cutaneous and conjuctival telangiectasia, ocular apraxy, immunodeficiency, and increased risk of malignancy, ataxia-telangiectasia is a rare neurodegenerative disorder that shows signs of autosomal recessive transmission. The ataxia-telangiectasia gene is located in chromosome 11q22-23. Various degrees of abnormalities in T and B cell immunities have also been described. It is known that the incidence of both T cell and B cell leukemia and lymphoma increased compared with the general growth of the population in Turkey. T cell malignancy can be seen at any age though B cell malignancy is more common at older ages. This report presents the case of two siblings who were diagnosed with ataxia-telangiectasia. The two siblings formerly had another sibling who was diagnosed with ataxia-telangiectasia and died from leukemia. Taking these two cases as the staring point, this study focuses on the clinical manifestations, affected systems and treatment of ataxia-telangiectasia.Öğe Çocukluk çağı immün trombositopenik purpura tanısı alan olgularımızın retrospektif değerlendirilmesi ve yüksek doz metilprednizolon ile intravenöz immunglobulin tedavilerinin karşılaştırılması(İnönü Üniversitesi, 2015) Aslan, MahmutGiriş ve Amaç: Çocukluk çağında en sık görülen edinsel trombositopeni nedenlerinden biri immün trombositopenik purpuradır (İTP). Bu çalışmada İTP tanısı almış hastaların dosyaları geriye dönük olarak incelendi. Hastaların başvuru sırasındaki klinik özellikleri ve tedavi seçiminin etkinlikleri belirlenmeye çalışıldı. Hastalar ve Metod:, İnönü Üniversitesi Turgut Özal Tıp Merkezi Hastanesi Çocuk Sağlığı ve Hastalıkları AD, Çocuk Hematoloji BD'na Ocak 2010 - Ağustos 2014 tarihlerinde hastaneye akut ITP tanısı ile yatırılan hastalar çalışmaya alınmıştır. Hasta dosyaları geriye dönük olarak analiz edildi. Hastaların yüksek doz metilprednizolon (YDMP) veya intravenöz immunglobulin (İVİG) tedavileri alan hastaların başvuru ve izlemlerindeki bulguları karşılaştırıldıBulgular: Çalışmamıza İTP tanısı alan 160 hastayı alındı. Hastaların ortalama tanı yaşı 6,15±4,29 yıldı. Erkek/kız oranı 1,31 idi. Başvuru şikayetleri en sık (%70) peteşi ve purpura idi. Hastaların %48,13'ünde başvurudan 1-4 hafta önce geçirilmiş enfeksiyon hikayesi mevcuttu. Laboratuar bulguları; ortalama trombosit sayısı 12081±11912/mm3 idi ve ortalama trombosit hacmi (MPV) değeri 9,02±1,63 fL idi. Çalışmaya aldığımız hastaların %96'sına kemik iliği aspirasyonu yapıldı ve megakaryositer seri artışı 126 hastada (%81,8) saptandı. Vakalarımızın hiçbirinde malignite bulguları saptanmadı. 105 hastaya YDMP, 55 hastaya IVIG tedavileri verildi ve hastaların tedavilere yanıtları karşılaştırıldı. Tedavinin 10. gününde YDMP alan hastaların %68,5'inde tam yanıt alınırken, İVİG alan hastaların %67,2'sinde tam yanıt alındı. İstatistiksel olarak YDMP ile İVİG arasında fark saptanmadı. Geliş kanama zamanı 7 dk'nın üzerinde olan %15 hastanın kronikleşme ve relaps gelişme oranı daha yüksek saptandı ve istatistiksel olarak anlamlı saptandı. Relaps gelişen 55 hastanın 38'inde (%69,1) kronikleşme geliştiği tespit edildi. Sonuç: İTP çocukluk çağında sık görülen bir hastalık olup hastaların %20-30'u kronikleşmektedir. Çalışmamızda da YDMP ile İVİG tedavilerinin kronikleşme ve relaps üzerine etkisi açısından aralarında fark bulunmadı. Ayrıca çalışmamızda geliş kanama zamanı uzun olan hastalarda kronikleşme ve relaps oranları daha yüksek bulundu. Anahtar Kelimeler: İmmün trombositopenik purpura, çocuk, intravenöz immunglobulin, yüksek doz metilprednizolonÖğe Effectiveness of zonisamide in childhood refractory epilepsy(Springer, 2022) Aslan, Mahmut; Gungor, SerdalIntroduction Zonisamide (ZNS) is a new generation antiepileptic drug (AED) used in refractory epilepsy. This study assessed the effectiveness and reliability of ZNS in childhood refractory epilepsy. Method Sixty-eight epilepsy patients who were followed up in the paediatric neurology clinic, between 2013 and 2019, and in whom add-on therapy ZNS had been added as their seizures had continued despite multiple drugs being used, were included in this retrospective study. Their demographic findings, seizure aetiology, pre-treatment and post-treatment electroencephalography findings, treatment responses and any side effects of the drugs given were assessed in these patients. Results There were 46 (67.6%) patients in the refractory generalized epilepsy (RGE) group using multiple AEDs and 22 (32.35%) patients in the refractory focal epilepsy (RFE) group. Of these patients, 12 (17.65%) were being followed up for idiopathic epilepsy and 8 (11.76%) were being followed up for epilepsy of unknown aetiology. Twenty-two (32.36%) patients were followed up for structural abnormality, 8 patients (11.77%) were followed up for genetic disease, 4 patients (5.88%) were followed up for infectious sequel, 14 patients (20.59%) were followed up for metabolic reasons. In the RGE group, a more than 50% reduction was found in the seizures of 26 (56.5%) patients, while the seizures of 7 (15.2%) patients were found to have terminated completely. In the RFE group, a more than 50% reduction was found in the seizures of 19 (86.4%) patients, while the seizures of 2 (9.1%) patients were found to have terminated completely. The termination or a more than 50% reduction in seizures in 4 of the 6 patients followed up for a diagnosis of tuberous sclerosis complex (TSC) was significant. Conclusion ZNS is an effective and reliable option as an add-on therapy in paediatric refractory epilepsy, especially in focal epilepsy. It can also be considered for treatment in TSC patients.Öğe Evaluation of BrainDeath inChildren:ASingleCenter Experience(2019) Aslan, Mahmut; Güngör, Serdal; Aslan, Neslihan; Özgör, Bilge; Kırık, SerkanAbstract: Introduction: Brain death is defined as a status of apnea, coma and the absence of brainstem reflexes, in addition to the presence of electrocerebral silence (ECS) on an electroencephalography (EEG). Trauma and anoxic encephalopathy are the most common causes of brain death in children, with incidences of brain death reported to vary between 0.65–1.2 percent. A diagnosis of brain death can be made based on a detailed anamnesis, physical examination findings and supportive test results. When pediatric patients are being evaluated by EEG, they should also be assessed in terms of medications, metabolic encephalopathy, hypothermia, electrolyte imbalance and acid-base imbalance. Patients and Methods: The presentstudy included patients who suffered brain death during hospitalization in the pediatric intensive care unit of Inonu University Turgut Ozal Medical Center between 2010 and 2017. The medical files of the patients were reviewed retrospectively. All patients included in the study underwent an EEG and an apnea test was performed on all patients. The cerebral blood flow (CBF) measurement was obtained through a Computerized Tomography Angiography (CTA), and all patients underwent a Magnetic Resonance Angiography (MRA) and a Transcranial Doppler Ultrasonography (TCD). Results: Of the 20 patients included in the study, nine (45%) were female and 11 (55%) were male, with a mean age of 8.47±5.73 years. Of the total, seven patients presented with fulminant hepatitis, three with trauma, three with sepsis, two with drowning, two with cerebrovaskuler disease (CVD), and one patient each with lymphoma, suicide and electric shock. The families of only two (10%) patients donated the organs of the deceased. Of the 20 patients, four were Syrian, and of which were being monitored with the diagnosis of liver failure. An apnea test was positive in all patients, and in all patients, the EEG findings supported brain death. Imaging methods were carried out to demonstrate the absence of CBF flow in 11 (55%) patients, and diabetes insipidus (DI) developed in nine (45%) of the patients with brain death. Conclusion: In conclusion, a multidisciplinary approach is required for the diagnosis of brain death. An evaluation of laboratory findings and EEG results together with the findings of a physical examination is important, particularly in centers like our clinics where more than 50 pediatric transplantations are carried out each year. The development of hypernatremia in patients with DI is now an important parameter in the loss of brain function.Öğe EVALUATION OF CASES PRESENTING WITH MYELITIS IN CHILDHOOD(Istanbul Univ, Fac Medicine, Publ Off, 2021) Aslan, Mahmut; Gungor, SerdalObjective: Myelitis is a monophasic inflammatory demyelinating disease of the spinal cord and brain, often of unknown origin. It is characterized with motor, sensory, and autonomic symptoms. In the childhood age group, it is most frequently seen as acute disseminated encephalomyelitis (ADEM) and transverse myelitis. In this study, the patients who presented to our clinic with myelitis were evaluated. Material and Methods: Patients who were referred to Inonu University Paediatric Neurology Clinic with myelitis between 2012 and 2019 were included in the present study. Our patients' diagnoses, demographic findings, treatments, and treatment responses were evaluated. Results: Thirty-eight patients, 23 with ADEM and 15 with transverse myelitis, were included in the study. The average age of patients was 8.52 +/- 4.19. Seventy-three-point nine percent (73.9%) of the ADEM patients were male, while 46.7% of the transverse myelitis patients were male. The average follow-up time with patients was 22.65 +/- 17.71 months. In terms of therapy, 28 of patients were given steroid, three were given IVIG, six were given steroid+IVIG, and one was given steroid+IVIG+plasmapheresis. Two of patients followed with transverse myelitis were polyphasic, while one was monophasic. Encephalopathy was seen in 82.6% of patients followed with ADEM, while seizure was seen in eight and fever was seen in 19. We had three anti-myelin oligodendrocyteglycoprotein (Anti-MOG) positive patients. One of these patients had optic neuritis attack after transverse myelitis and was diagnosed with neuromyelitis optic spectrum disorder. Conclusion: Myelitis is a significant neurological emergency rarely seen in childhood. The patients should be recognized and treated fast in terms of prognosis. In Anti-MOG positive patients, more care should be taken in treatment and the patients should be followed for a long period of time.Öğe EVALUATION OF CLINICAL, DEMOGRAPHIC AND ELECTROENCEPHALOGRAPHY FINDINGS OF DRAVET SYNDROME PATIENTS(Istanbul Univ, Fac Medicine, Publ Off, 2021) Aslan, Mahmut; Gungor, SerdalObjective: Dravet syndrome (DS) is a severe myoclonic epilepsy affecting infants and is classified among epileptic syndromes. Generally, the first seizures begin with febrile diseases during infancy. Cognitive functions and behavior of patients begin to decline from the age of two. In DS, the most common SCN1A mutation is detected. Material and Method: The study included 18 patients with DS who were presented to Inonu University Pediatric Neurology Clinic between 2012 and 2017. We retrospectively evaluated the demographic characteristics, seizure frequency, AED therapies and response to treatment. Results: The mean age of our patients was 4.22 +/- 2.12 years. The F/M ratio was 1.57. The age of onset of seizures was 6.7 +/- 2.9 months. 77% of damage affecting patients was febrile onset. 77.7% of our patients were from VPA; 66.6% of the patients benefited from BZD, and sodium voltage-gated channel alpha subunit 1 (SCN1A) mutation was detected in all of our patients. Two patients were monozygous twins and three siblings were also monozygous. The same mutation was observed in our sister patients who were monozygous and their age at seizure onset, seizure type, clinical course, and responses to AEDs were similar. The same mutation was observed in three siblings, but the age at the time of seizure, the onset of seizures, the seizure type, clinical course, and response to AEDs were different from each other. Conclusion: If neuromotor developmental retardation is associated with recurrent febrile seizures, DS should be considered among the preliminary diagnoses. Instead of this sentence, the most common cause of Dravet syndrome among these patients is the SCN1A mutation.Öğe AN EVALUATION OF PATIENTS DIAGNOSED WITH OPTIC NEURITIS IN CHILDHOOD(2021) Aslan, Mahmut; Kırık, Serkan; Güngör, SerdalAbstract: Objective: Optic neuritis (ON) is an autoimmune disease that starts with acute and subacute vision loss and is characterized by the demyelination of the optic nerve. It may appear as an iso-lated, idiopathic condition, or it may be a precursor of diseases such as Multiple Sclerosis (MS) or Neuromyelitis Optica (NMO). In the study, we aimed to evaluate ON patients and the long-term prognosis in pediatric patients. Material and Method: In this study, 13 patients who applied to the pediatric neurology clinic between years 2010-2017 and were diagnosed with acute ON were assessed retrospectively. Results: Thirteen patients diagnosed with ON were included in our study, six of whom were diagnosed with isolated ON (6/13, 46.15%). Nine of them were female. The average age of our pa-tients was 12.8±3.07 years. Seven patients (53.85%) had unilateral involvement. A complete recovery was provided in 12 patients. There were recurrences in the follow-up of two patients, diag-nosed with MS. Conclusion: ON should absolutely be considered in every child with blurred vision and vision loss. Early stage steroid treatment is the most efficient therapy.Öğe Evaluation of seizures and clinical features of pediatric patients diagnosed with Rett Syndrome who were detected to have MECP2 mutation(2021) Kırık, Serkan; Aslan, Mahmut; Özgör, Bilge; Güngör, SerdalAim: The aim of this study was to investigate the seizures and clinical characteristics of patients diagnosed with Rett syndrome with MECP2 mutation who were followed up in our tertiary pediatric neurology clinic. Material and Methods: Patients who were admitted to the pediatric neurology clinic of Inonu University Faculty of Medicine between 2010 and 2015. The patients got MECP2 mutation and whose electronic medical datas were available, were included in our study. Electroencephalography (EEG) records of the patients and antiepileptic treatments they received were evaluated. Results: The mean age of the patients was 10.2 (9.36 ± 2.75) and the mean age at onset of complaints was 15 months (12.1 ± 5.19). Six of 9 patients who had seizures had generalized tonic clonic seizures and three patients had focal seizures. The most preferred antiepileptic drug was valproic acid. Conclusion: Rett syndrome characterized with cognitive detoration, epileptic seizures, and microcephaly. Increased awareness provides early diagnosis and suitable treatment for female patients applied with otism and microcephalia in particular, and it is also important for preventing unnecessary diagnostic tests.Öğe The Importance of Long-Term Video Electroencephalography Monitoring in the Differential Diagnosis of Epilepsy in Children(Springernature, 2022) Aslan, Mahmut; Gungor, SerdalObjective: Epilepsy is a condition in which abnormal, recurring, and excessive neuronal discharges caused by many different disorders in the central nervous system are observed. The rate of detecting epileptiform activity in the first interictal electroencephalography (EEG) of patients with epilepsy is around 40%, even when routine activation methods are applied. Video recordings simultaneously with EEG recordings enable the establishment of correlations between abnormalities. Patients and methods: The long-term video-EEG monitoring (VEM) reports and images of 87 patients hospitalized in the video EEG service in the Pediatric Neurology Clinic of Inonu University between 2016 and 2020 were retrospectively analyzed in this study. Demographic information of the patients, such as age, gender, diagnosis/history, and length of hospital stay, was analyzed. Results: A total of 87 patients were included in the study. Of the patients, 54 (62.1%) were male and 33 (37.9%) were female. The mean age was 107.57 +/- 64.40 months. While 10 (11.5%) patients followed up with non-epileptic paroxysmal events (NEPE) were taking antiepileptic drugs (AEDs), AED treatments were discontinued after VEM. The diagnosis of 18 (20.69%) patients changed after VEM. The medications of 27 (31%) patients who took AEDs before VEM were discontinued after VEM. During VEM, sleep movement, psychogenic seizures, infantile masturbation, and tic disorder were observed in 19 (41.3%), 17 (36.9%), three (6.5%), and three (6.5%) patients, respectively. Conclusion: In conclusion, VEM is the gold standard diagnostic method used to distinguish between epilepsy and NEPEs. After VEM, the clinical diagnosis of patients can change, and unnecessary drug administration may be prevented. Psychogenic nonepileptic seizures and NEPEs are common in the pediatric population; however, they are often overlooked.Öğe Konjenital şilotoraksı olan bir yenidoğanda oktreotid ile tedavi(Fırat Tıp Dergisi, 2013) Kurnaz, Erdal; Yakında, Hüseyin; Aslan, Mahmut; Demirtaş, Gülsüm; Özdemir, Ramazan; Karadağ, AhmetÖz: Konjenital şilotoraks, yenidoğanda plevral efüzyonun nadir görülen bir nedenidir. Erkeklerde sıklığı iki kat fazladır. Görülme sıklığı 1/10.000- 15.000’dir. Konjenital şilotoraksın etiyolojisi halen tartışmalıdır. Tanısı plevral efüzyonun tanı ve tedavi amaçlı boşaltılarak analiz edilmesi ile mümkündür. Yenidoğan döneminde şilotoraks tedavisinde konservatif yaklaşımlar cerrahi yöntemler kullanılmaktadır. Günümüzde konservatif yaklaşımlarla sonuç alınamayan olgularda, oktreotid tedavisi ile başarılı sonuçlar alındığı bildirilmektedir. Konjenital şilotoraksın prognozu sıklıkla iyi seyretmekte, ancak hidrops fetalis olgularında mortalite oranı artmaktadır. Bu yazıda ve otolog kan transfüzyonuna yanıt alınamayıp oktreotid ile tedavi edilen, hidrops fetalise bağlı bir konjenital şilotoraks olgusu sunulmuştur.Öğe A novel SCN1A mutation: A case report(Wolters Kluwer Medknow Publications, 2020) Aslan, Mahmut; Ozgor, Bilge; Kirik, Serkan; Gungor, SerdalIntroduction: Dravet syndrome (DS) is characterized by severe infant-onset myoclonic epilepsy with delayed psychomotor development and increased premature mortality. The seizures triggered by fire have been gradually decreased over time, and finally they start to occur without fever at the age of 2-3 years. Along with its initiation of myoclonic seizures in the early period, other types such as atypical absence, versive, and complex partial seizures occur between 1 and 4 years of age. Case Report: A 3-year-old male patient with refractory epilepsy and neuromotor developmental retardation was admitted to our clinic. The patient initially had seizures in the afebrile period, when he was 4 months old, and he had a total of five seizures by the age of 1 year. Neuromotor developmental retardation developed over time in patients with normal neuromotor development in the early stages of his life. His cranial magnetic resonance imaging and metabolic test findings were normal. The SCN1A mutation was investigated, and a new variant mutation of SCN1A, homozygous (p.Y1599FfsFNx0119-c.4796delA) was detected. The patient's family was also screened and this new mutation was detected as heterozygous mutation. The patient had hepatomegaly. The etiology of hepatomegaly was investigated but no cause was found. Conclusion: Variant mutations of DS should be kept in mind and diagnostic genetic testing should be done in patients with neuromotor developmental retardation starting with afebrile seizures. In DS, hepatomegaly is not an expected condition. Maybe this new mutation might have caused hepatomegaly.Öğe Rare Cause of Cerebellar Mutism in Childhood: Vertebral Artery Dissection(2020) Aslan, Mahmut; Kırık, Serkan; Özgör, Bilge; Güngör, SerdalAbstract: Vertebral artery dissection (VAD), an extremely rare childhood disorder, constitutes 2%-3% of cerebrovascular diseases (CVDs). The annual incidence of CVD in childhood is estimated to be 3-8 per 100.000. Although it is generally observed after trauma, it could also be observed simultaneously with trauma. CVD is diagnosed by cranial magnetic resonance imaging (MRI) and magnetic resonance angiography (MRA). However, the gold standard for CVD diagnosis is conventional angiography. A 12-years-old girl presenting with symptoms of headache and vomiting lasting for 5 days was hospitalized and followed up. In the neurological examination, muscle power in lower and upper extremes was 4/5 on the right and 2/5 on the left, while Babinski response was extensor on the left. Cranial MRA revealed a dissection in the right middle vertebral artery at the M1 segment, with vascular irregularity. Warfarin sodium was administered to the patient based on recommendation, and physical therapy was also started. Moderate recovery was observed in aphasia, and partial recovery was observed in left hemiplegia after 7 days of treatment. Cerebellar infarct and cerebellar mutism cases should be investigated for VAD. Early diagnosis and treatment are very pertinent for reduction of mortality and morbidity due to the disease. Angiography should be performed for diagnosis.Öğe A Retrospective Evaluation of Children Diagnosed with Dermatomyositis: A Single-center Study(Galenos Publ House, 2022) Aslan, Mahmut; Gungor, Serdal; Tabel, Yilmaz; Ozgor, Bilge; Kirik, SerkanObjective: Juvenile idiopathic inflammatory myopathies are systemic autoimmune disorders that are characterized by chronic skeletal muscle inflammation, skin rashes and other systemic involvements. We analyzed the clinical findings, laboratory values at admission and treatment protocols and treatment responses of patients who were followed up with a diagnosis of juvenile dermatomyositis (JDM) in a department of pediatric neurology and rheumatology clinics. Methods: Fifteen patients who were referred to the department of pediatric neurology and pediatric rheumatology clinics, diagnosed with JDM between 2010 and 2017 were evaluated retrospectively via their medical records. Results: Of the study sample, 12 (80%) of the patients were female and 3 (20%) were male, and their mean age was 9.26 +/- 3.21 years. The mean time between complaint and diagnosis was 7.8 +/- 6 months, and the patients were followed up for 24.93 +/- 15.28 months after their diagnosis. The mean creatine kinase levels of the patients were 1.354 +/- 840 U/L. Fifteen (100%) of the patients had muscle weakness, 14 (93.3%) had Gottron's papules and 12 (80%) patients had a heliotrope rash. Ten (66.6%) underwent muscle biopsy, 9 (60%) underwent electromyography and 5 (33.3%) patients underwent muscle magnetic resonance imaging. All the patients were treated with corticosteroids and immunosuppressive agents. Conclusion: JDM is a rare inflammatory myopathy observed during childhood. Better responses can be achieved by early diagnosis, intensive immunosuppressive therapy and effective physical therapy.Öğe Reversible Splenial Lesion Syndrome Associated with Encephalitis/Encephalopathy and Hyponatremia(Georg Thieme Verlag Kg, 2020) Gungor, Serdal; Kilic, Betul; Aslan, Mahmut; Ozgor, BilgeReversible splenial lesion syndrome (RESLES) is a rare occurrence with a broad clinical and radiological spectrum due to several conditions and diseases. Generally, clinical symptoms of RESLES include mildly altered states of consciousness, delirium, and seizures. RESLES can be shown in conjunction with central nervous system infections, especially in children. Hyponatremia is also described as a potential cause of reversible splenial lesions. Reversible signal changes on diffusion-weighted images are detected in patients for diagnosis. The prognosis is usually good but it depends on the underlying disease, neurological and imaging findings. Here we present two pediatric patients with RESLES accompanied by hyponatremia.Öğe Severe Complications of Varicella Zoster Virus Infection in Two Children(2018) Güngör, Serdal; Özgör, Bilge; Kirik, Serkan; Aslan, MahmutAbstract: Su çiçeği etkenini oluşturan Varisella Zoster virüsü, çocukluk çağında yaygın olarak görülür. Genellikle iyi huylu bir seyir gösterir ve aşılama ile büyük ölçüde önlenebilir. Nadir olarak merkezi sinir sistemi enfeksiyonlarına neden olabilir. Burada hastalardan birinin mülteci olduğu iki suçiçeği kaynaklı merkezi sinir sistemi enfeksiyonu olgusu bildirdik. Her iki hastamızın da suçiçeği aşısı yapılmamıştı. Hastaların birincisinde su çiçeğine bağlı meningoensefalit gelişmişti. İkincisinde ise meningoesefalit sonrasında trombozis gelişmişti. Bu yazımızda nadir de olsa, suçiçeği enfeksiyonunun merkezi sinir sistemi enfeksiyonu ve buna bağlı ciddi komplikasyonlara neden olabileceğini ve bu yönden çok sayıda mültecinin bulunduğu Türkiye'de suçiçeği aşılamasının önemini vurgulamak istedikÖğe Two siblings with metachromatic leukodystrophy caused by a novel identified homozygous mutation in the ARSA gene(Walter De Gruyter Gmbh, 2018) Aslan, Mahmut; Kirik, Serkan; Ozgor, Bilge; Gungor, SerdalBackground: Metachromatic leukodystrophy (MLD) is an autosomal recessively (AR) inherited disease caused by the deficiency of the enzyme arylsulfatase A (ARSA). Although MLD is the most common form of hereditary leukoencephalopathy, it is still very rare. More than 200 gene mutations have been identified in the ARSA gene. The most frequently identified mutation is the one located on chromosome 22q13.33. In the present study, new mutations are reported in two siblings of different ages and with different clinical presentations. Case presentation: A 9-year-old male patient, suffering from ataxia, attention deficit and perceptual difficulties, was first seen at the age of 7. While the findings of neurological examination and neuroradiological evaluation suggested MLD, the ARSA enzyme levels were analyzed and found to be at a lower limit. Genetic analysis revealed variant homozygous mutations of the ARSA gene at p.N352S/c.1055T>C in exon 6 and at p.E331K/c.991G>A in exon 7. In the genetic analysis of his three siblings and parents, a variant heterozygous mutation of the ARSA gene was detected at p.N352S/c.1055T>C in exon 6 and at p.E331K/c.991G>A in exon 7. Conclusions: MLD is a rare disease; however, it is likely to find different variant forms in our population, in which the frequency of consanguineous marriages is high. Genetic diagnosis is important in symptomatic cases with enzyme levels within the normal ranges.Öğe The Value of Electroencephalogram (EEG) Findings in the Evaluation and Treatment Management of Pediatric Acute Liver Failure(Springernature, 2024) Ozgor, Bilge; Gungor, Sukru; Aladag, Merve; Varol, Fatma I.; Aslan, Mahmut; Yilmaz, Sezai; Gungor, SerdalBackground Pediatric acute liver failure (PALF) is still life -threatening and requires urgent care. The presence of encephalopathy is a clinical diagnosis, but it is more difficult to diagnose in children than in adults, and an electroencephalogram (EEG) can be invaluable. The role of EEG in managing the treatment of patients with PALF, other than the identification of encephalopathy, is unknown. This study aimed to investigate patients' EEGs, which may guide in choosing the most appropriate treatment in encephalopathy children. A further aim was to investigate a new score method, based on the laboratory results, which might indicate the presence of encephalopathy in cases with PALF. Methods Medical data of 33 PALF patients followed in our clinic were reviewed retrospectively. This study included 33 patients, whose EEG recording was taken on the first day of supportive treatment due to liver failure in the pediatric intensive care unit (PICU). The EEG findings were categorized into three classes: normal, epileptic and non -epileptic paroxysmal, and background encephalopathic patterns including widespread slowing and voltage suppression. Result This retrospective study included 13 male and 20 female patients with a mean age at presentation of 4.82 +/- 4.81 months whose EEG was performed on the first day of supportive therapy for liver failure in the PICU. The EEG findings were categorized into three groups: normal, epileptic and non -epileptic paroxysms, and encephalopathic patterns including diffuse background slowing and voltage suppression. Comparing EEG findings and treatments, we found that the normal EEG group responded well to liver -supporting therapy and the rate of plasmapheresis treatment was significantly higher in the diffuse slowing group. Patients with diffuse slowing of the EEG were 9.6 times more likely to receive plasmapheresis. We found that above a cut-off of >= 7.5 for the TAI (total bilirubin, albumin, and international normalized ratio (INR)) score used in our study, the risk of developing encephalopathy increased 14.4 -fold. Conclusions In PALF, EEG findings can provide findings that will help clinicians in determining treatment selection and prognosis, as well as detecting epileptic focus and encephalopathy. The TAI score can be used to assess the risk of encephalopathy in cases of PALF, when it is challenging to identify encephalopathy or when an EEG is not possible.
